Genetic Studies in a Family with Distal Renal Tubular Acidosis and Sensorineural Deafness

作者：Sethi Sidharti Kumar; Singh Niranjan; Gil Helena; Bagga Arvind^*

来源：Indian Pediatrics, 2009, 46(5): 425-427.

• ATP6V1B1 gene
• Renal tubular acidosis
• Sensorineural deafness

Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H(+)-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation C > T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.

• 出版日期2009-5
• 单位河北医科大学